Related gene-specific medical variations for Gene (Select 5376) - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2689794	NM_000304.4(PMP22):c.109G>C (p.Asp37His)	PMP22 (D37H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1684546	GRCh37/hg19 17p12(chr17:15027001-15183000)x3	PMP22	Copy number gain	See cases	GUncertain significance
Select item 1183969	NM_000304.4(PMP22):c.55dup (p.Leu19fs)	PMP22 (L19fs)	Duplication (frameshift variant)	Peripheral neuropathy	GLikely pathogenic
Select item 1177481	GRCh37/hg19 17p12(chr17:15133096-15164093)x1	PMP22	Copy number loss	Hereditary liability to pressure palsies	Gnot provided
Select item 994921	NM_000304.4(PMP22):c.406T>A (p.Tyr136Asn)	PMP22 (Y136N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 994920	NM_000304.4(PMP22):c.398G>A (p.Gly133Asp)	PMP22 (G133D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 987041	NM_000304.4(PMP22):c.76_77del (p.Ser26fs)	PMP22 (S26fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 987040	NM_000304.4(PMP22):c.78+2_78+3del	PMP22	Deletion (splice donor variant)	not provided	GLikely pathogenic
Select item 977285	NC_000017.11:g.15133096_15164093dup	PMP22	Duplication	Charcot-Marie-Tooth disease, type IA	GPathogenic
Select item 918001	NM_000304.4(PMP22):c.197A>C (p.Gln66Pro)	PMP22 (Q66P)	Single nucleotide variant (missense variant +1 more)	Hereditary liability to pressure palsies	GUncertain significance
Select item 694891	NM_000304.4(PMP22):c.319+16T>G	PMP22	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 694890	NM_000304.4(PMP22):c.*83del	PMP22	Deletion (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 633486	NM_000304.4(PMP22):c.-34-216C>T	LOC130060307, PMP22	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease, type I +1 more	GBenign
Select item 253569	GRCh37/hg19 17p12(chr17:14413312-15169915)x3	PMP22	Copy number gain	See cases	GPathogenic
Select item 253544	GRCh37/hg19 17p12(chr17:15133960-15169915)x1	PMP22	Copy number loss	See cases	GPathogenic
Select item 253394	GRCh37/hg19 17p12(chr17:15133960-15169915)x3	PMP22	Copy number gain	See cases	GPathogenic
Select item 218289	NM_000304.2(PMP22):c.(?_-1)_(*1_?)dup	PMP22	Duplication	Charcot-Marie-Tooth disease, type I	GPathogenic
Select item 218288	NM_000304.2(PMP22):c.(?_-1)_(*1_?)del	PMP22	Deletion	Charcot-Marie-Tooth disease, type I	GPathogenic
Select item 127097	GRCh38/hg20 17p12(chr17:14170534-15591587)x4	PMP22	Copy number gain	Charcot-Marie-Tooth disease, type IA	GPathogenic
Select item 8427	NC_000017.11:g.(?_14440201)_(15475424_?)dup	PMP22	Duplication	Roussy-Lévy syndrome +1 more	GPathogenic

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Links from Gene

Items: 20